A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151473



Internal ID15534005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960940..22219245hg38UCSC Ensembl
Innerchr22:22315312..22573637hg19UCSC Ensembl
Innerchr22:20645312..20903637hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38258306
hg19258326
hg18258326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv588336
Supporting Variants
SamplesNINDS_247
Known GenesTOP3B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151473
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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